U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    EPB41L1 erythrocyte membrane protein band 4.1 like 1 [ Homo sapiens (human) ]

    Gene ID: 2036, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    EPB41L1provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:3378
    See related
    Ensembl:ENSG00000088367 MIM:602879; AllianceGenome:HGNC:3378
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    4.1N; MRD11
    Summary
    Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
    Expression
    Broad expression in brain (RPKM 24.1), adrenal (RPKM 21.5) and 21 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See EPB41L1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36091414..36232799)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37812399..37953498)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34679336..34820721)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:34637879-34639078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12866 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34679298-34680250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34681205-34682156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34683285-34683786 Neighboring gene non-coding RNA activated by DNA damage Neighboring gene NANOG hESC enhancer GRCh37_chr20:34685650-34686158 Neighboring gene high mobility group box 3 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34700699-34701198 Neighboring gene uncharacterized LOC124904977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34716909-34717410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12869 Neighboring gene uncharacterized LOC124904893 Neighboring gene EPB41L1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34761581-34762283 Neighboring gene uncharacterized LOC124904892 Neighboring gene Sharpr-MPRA regulatory region 2694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17805 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:34799860-34801059 Neighboring gene uncharacterized LOC105372602 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 Neighboring gene AAR2 splicing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959277-34959938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959939-34960600 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:34960601-34961262 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961263-34961922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961923-34962584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34964801-34965786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34966822-34967482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34968805-34969464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34969762-34970692 Neighboring gene DLG associated protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34978479-34978979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34980118-34980829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34996041-34996689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35060233-35060734 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35069878-35070075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35082739-35083539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35089423-35090213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35090214-35091004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35092411-35093337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35093338-35094263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35100944-35101844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35125835-35126334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17808 Neighboring gene DLGAP4 antisense RNA 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Radiation hybrid mapping of EPB41L1, a novel protein 4.1 homologue, to human chromosome 20q11.2-q12. Kim AC, et al. Genomics, 1998 Apr 1. PMID 9570967
    2. 4.1N suppresses hypoxia-induced epithelial-mesenchymal transition in epithelial ovarian cancer cells. Zhang L, et al. Mol Med Rep, 2016 Jan. PMID 26648170
    3. Protein 4.1N is required for the formation of the lateral membrane domain in human bronchial epithelial cells. Wang Y, et al. Biochim Biophys Acta Biomembr, 2018 May. PMID 29428502, Free PMC Article
    4. Defective expression of Protein 4.1N is correlated to tumor progression, aggressive behaviors and chemotherapy resistance in epithelial ovarian cancer. Xi C, et al. Gynecol Oncol, 2013 Dec. PMID 23994105
    5. The linoleic acid derivative DCP-LA increases membrane surface localization of the α7 ACh receptor in a protein 4.1N-dependent manner. Kanno T, et al. Biochem J, 2013 Mar 1. PMID 23256752

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 4.1N, betaII spectrin and ankyrin G are structural components of the lateral membrane skeleton and this skeleton plays an essential role in the assembly of a fully functional lateral membrane.
      Title: Protein 4.1N is required for the formation of the lateral membrane domain in human bronchial epithelial cells.
    2. Data show that overexpression of 4.1N protein decreased expression of flotillin-1, decreased activation of beta-catenin/Wnt pathway in non-small-cell lung cancer (NSCLC) cells.
      Title: 4.1N is involved in a flotillin-1/β-catenin/Wnt pathway and suppresses cell proliferation and migration in non-small cell lung cancer cell lines.
    3. Data suggest that repression of JNK-c-Jun signaling through pancreatic polypeptide receptor 1 (PP1) is one of the key anti-tumor mechanisms of neuronal membrane cytoskeletal protein 4.1 (4.1N).
      Title: Protein 4.1N acts as a potential tumor suppressor linking PP1 to JNK-c-Jun pathway regulation in NSCLC.
    4. the data of the current study identified 4.1N as an inhibitor of hypoxiainduced tumor progression in epithelial ovarian cancer cells.
      Title: 4.1N suppresses hypoxia-induced epithelial-mesenchymal transition in epithelial ovarian cancer cells.
    5. Kainate receptor GluK2a post-translational modifications differentially regulate association with 4.1N to control activity-dependent receptor endocytosis
      Title: Kainate receptor post-translational modifications differentially regulate association with 4.1N to control activity-dependent receptor endocytosis.
    6. This protein has been found differentially expressed in thalami from patients with schizophrenia.
      Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study of 182 candidate genes in anorexia nervosa.
    8. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    9. protein 4.1N/dopamine receptor interaction is required for localization or stability of dopamine receptors at the neuronal plasma membrane.
      Title: D2 and D3 dopamine receptor cell surface localization mediated by interaction with protein 4.1N.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 11
    MedGen: C3280285 OMIM: 614257 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • KIAA0338, MGC11072, DKFZp686H17242

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    band 4.1-like protein 1
    Names
    neuron-type nonerythroid protein 4.1
    neuronal protein 4.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031853.3 RefSeqGene

      Range
      68237..146296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258329.1 → NP_001245258.1  band 4.1-like protein 1 isoform c

      See identical proteins and their annotated locations for NP_001245258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
      Source sequence(s)
      AK299817, AL121895, BC040259
      Consensus CDS
      CCDS58771.1
      UniProtKB/TrEMBL
      A0A0C4DH22, B3KUB6
      Related
      ENSP00000363057.4, ENST00000373946.7
      Conserved Domains (7) summary
      smart00295
      Location:99 → 288
      B41; Band 4.1 homologues
      cd13184
      Location:283 → 376
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:183 → 288
      FERM_M; FERM central domain
      pfam04382
      Location:493 → 524
      SAB; SAB domain
      pfam05902
      Location:790 → 867
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:385 → 425
      FA; FERM adjacent (FA)
      pfam09379
      Location:101 → 164
      FERM_N; FERM N-terminal domain

    2. NM_001258330.1 → NP_001245259.1  band 4.1-like protein 1 isoform d

      See identical proteins and their annotated locations for NP_001245259.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus and lacks two alternate internal segments compared to isoform a.
      Source sequence(s)
      AK126875, AK299817, AL121895
      Consensus CDS
      CCDS58770.1
      UniProtKB/TrEMBL
      B3KUB6
      Related
      ENSP00000487049.2, ENST00000628415.2
      Conserved Domains (5) summary
      smart00295
      Location:68 → 257
      B41; Band 4.1 homologues
      cd13184
      Location:252 → 345
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:451 → 481
      SAB; SAB domain
      pfam05902
      Location:595 → 688
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:354 → 395
      FA; FERM adjacent (FA)

    3. NM_001258331.2 → NP_001245260.1  band 4.1-like protein 1 isoform b

      See identical proteins and their annotated locations for NP_001245260.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) is shorter at the N-terminus and lacks two alternate internal segments compared to isoform a. Variants 2 and 5 both encode the same isoform (b).
      Source sequence(s)
      AL035420, AL121895, BC013885
      Consensus CDS
      CCDS13272.1
      UniProtKB/TrEMBL
      B3KUB6
      Related
      ENSP00000202028.5, ENST00000202028.9
      Conserved Domains (6) summary
      smart00295
      Location:37 → 226
      B41; Band 4.1 homologues
      cd13184
      Location:221 → 314
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:420 → 450
      SAB; SAB domain
      pfam05902
      Location:673 → 766
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:323 → 364
      FA; FERM adjacent (FA)
      cl26247
      Location:334 → 525
      DNA_pol3_delta2; DNA polymerase III, delta subunit

    4. NM_001424373.1 → NP_001411302.1  band 4.1-like protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL121895

    5. NM_001424374.1 → NP_001411303.1  band 4.1-like protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL121895

    6. NM_001424375.1 → NP_001411304.1  band 4.1-like protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL121895

    7. NM_001424376.1 → NP_001411305.1  band 4.1-like protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL121895

    8. NM_001424377.1 → NP_001411306.1  band 4.1-like protein 1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL121895

    9. NM_001424378.1 → NP_001411307.1  band 4.1-like protein 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL121895

    10. NM_001424379.1 → NP_001411308.1  band 4.1-like protein 1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL121895

    11. NM_001424380.1 → NP_001411309.1  band 4.1-like protein 1 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL121895

    12. NM_001424381.1 → NP_001411310.1  band 4.1-like protein 1 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL121895

    13. NM_001424382.1 → NP_001411311.1  band 4.1-like protein 1 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL121895

    14. NM_001424383.1 → NP_001411312.1  band 4.1-like protein 1 isoform o

      Status: REVIEWED

      Source sequence(s)
      AL121895

    15. NM_001424384.1 → NP_001411313.1  band 4.1-like protein 1 isoform p

      Status: REVIEWED

      Source sequence(s)
      AL121895

    16. NM_001424385.1 → NP_001411314.1  band 4.1-like protein 1 isoform q

      Status: REVIEWED

      Source sequence(s)
      AL121895

    17. NM_001424386.1 → NP_001411315.1  band 4.1-like protein 1 isoform r

      Status: REVIEWED

      Source sequence(s)
      AL121895

    18. NM_001424387.1 → NP_001411316.1  band 4.1-like protein 1 isoform s

      Status: REVIEWED

      Source sequence(s)
      AL121895

    19. NM_001424388.1 → NP_001411317.1  band 4.1-like protein 1 isoform t

      Status: REVIEWED

      Source sequence(s)
      AL121895

    20. NM_001424389.1 → NP_001411318.1  band 4.1-like protein 1 isoform u

      Status: REVIEWED

      Source sequence(s)
      AL121895

    21. NM_001424390.1 → NP_001411319.1  band 4.1-like protein 1 isoform v

      Status: REVIEWED

      Source sequence(s)
      AL121895

    22. NM_001424391.1 → NP_001411320.1  band 4.1-like protein 1 isoform w

      Status: REVIEWED

      Source sequence(s)
      AL121895

    23. NM_001424392.1 → NP_001411321.1  band 4.1-like protein 1 isoform x

      Status: REVIEWED

      Source sequence(s)
      AL121895

    24. NM_001424393.1 → NP_001411322.1  band 4.1-like protein 1 isoform y

      Status: REVIEWED

      Source sequence(s)
      AL121895

    25. NM_001424394.1 → NP_001411323.1  band 4.1-like protein 1 isoform z

      Status: REVIEWED

      Source sequence(s)
      AL121895

    26. NM_001424395.1 → NP_001411324.1  band 4.1-like protein 1 isoform aa

      Status: REVIEWED

      Source sequence(s)
      AL121895

    27. NM_001424396.1 → NP_001411325.1  band 4.1-like protein 1 isoform bb

      Status: REVIEWED

      Source sequence(s)
      AL121895

    28. NM_001424397.1 → NP_001411326.1  band 4.1-like protein 1 isoform cc

      Status: REVIEWED

      Source sequence(s)
      AL121895

    29. NM_001424398.1 → NP_001411327.1  band 4.1-like protein 1 isoform dd

      Status: REVIEWED

      Source sequence(s)
      AL121895

    30. NM_001424399.1 → NP_001411328.1  band 4.1-like protein 1 isoform ee

      Status: REVIEWED

      Source sequence(s)
      AL121895

    31. NM_001424400.1 → NP_001411329.1  band 4.1-like protein 1 isoform ff

      Status: REVIEWED

      Source sequence(s)
      AL121895

    32. NM_001424401.1 → NP_001411330.1  band 4.1-like protein 1 isoform gg

      Status: REVIEWED

      Source sequence(s)
      AL121895

    33. NM_001424402.1 → NP_001411331.1  band 4.1-like protein 1 isoform hh

      Status: REVIEWED

      Source sequence(s)
      AL121895

    34. NM_001424403.1 → NP_001411332.1  band 4.1-like protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL035420, AL121895

    35. NM_001424404.1 → NP_001411333.1  band 4.1-like protein 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL035420, AL121895

    36. NM_001424405.1 → NP_001411334.1  band 4.1-like protein 1 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL035420, AL121895

    37. NM_001424406.1 → NP_001411335.1  band 4.1-like protein 1 isoform ii

      Status: REVIEWED

      Source sequence(s)
      AL035420, AL121895

    38. NM_001424407.1 → NP_001411336.1  band 4.1-like protein 1 isoform z

      Status: REVIEWED

      Source sequence(s)
      AL035420, AL121895
      Related
      ENSP00000363061.2, ENST00000373950.6

    39. NM_001433605.1 → NP_001420534.1  band 4.1-like protein 1 isoform jj

      Status: REVIEWED

      Source sequence(s)
      AL121895

    40. NM_012156.2 → NP_036288.2  band 4.1-like protein 1 isoform a

      See identical proteins and their annotated locations for NP_036288.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB002336, AL121895, DB503878
      Consensus CDS
      CCDS13271.1
      UniProtKB/Swiss-Prot
      O15046, Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65, Q9H4G0
      UniProtKB/TrEMBL
      B3KUB6
      Related
      ENSP00000337168.2, ENST00000338074.7
      Conserved Domains (7) summary
      smart00295
      Location:99 → 288
      B41; Band 4.1 homologues
      cd13184
      Location:283 → 376
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:183 → 288
      FERM_M; FERM central domain
      pfam04382
      Location:493 → 524
      SAB; SAB domain
      pfam05902
      Location:791 → 868
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:385 → 425
      FA; FERM adjacent (FA)
      pfam09379
      Location:101 → 164
      FERM_N; FERM N-terminal domain

    41. NM_177996.2 → NP_818932.1  band 4.1-like protein 1 isoform b

      See identical proteins and their annotated locations for NP_818932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a different 5' UTR and multiple coding region differences compared to variant 1. The resulting isoform (b) has a shorter N-terminus and lacks two in-frame segments compared to isoform a. Variants 2 and 5 both encode the same isoform (b).
      Source sequence(s)
      AK299817, AL121895, BC013885
      Consensus CDS
      CCDS13272.1
      UniProtKB/TrEMBL
      B3KUB6
      Related
      ENSP00000399214.1, ENST00000441639.5
      Conserved Domains (6) summary
      smart00295
      Location:37 → 226
      B41; Band 4.1 homologues
      cd13184
      Location:221 → 314
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:420 → 450
      SAB; SAB domain
      pfam05902
      Location:673 → 766
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:323 → 364
      FA; FERM adjacent (FA)
      cl26247
      Location:334 → 525
      DNA_pol3_delta2; DNA polymerase III, delta subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      36091414..36232799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439972.1 → XP_047295928.1  band 4.1-like protein 1 isoform X10

    2. XM_047439975.1 → XP_047295931.1  band 4.1-like protein 1 isoform X11

    3. XM_047439985.1 → XP_047295941.1  band 4.1-like protein 1 isoform X18

    4. XM_047439983.1 → XP_047295939.1  band 4.1-like protein 1 isoform X16

    5. XM_047439966.1 → XP_047295922.1  band 4.1-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DH22
      Related
      ENSP00000363052.1, ENST00000373941.5

    6. XM_047439976.1 → XP_047295932.1  band 4.1-like protein 1 isoform X12

    7. XM_047439973.1 → XP_047295929.1  band 4.1-like protein 1 isoform X10

    8. XM_047439974.1 → XP_047295930.1  band 4.1-like protein 1 isoform X11

    9. XM_047439984.1 → XP_047295940.1  band 4.1-like protein 1 isoform X18

    10. XM_047439988.1 → XP_047295944.1  band 4.1-like protein 1 isoform X21

    11. XM_047439989.1 → XP_047295945.1  band 4.1-like protein 1 isoform X22

    12. XM_047440009.1 → XP_047295965.1  band 4.1-like protein 1 isoform X39

    13. XM_011528685.1 → XP_011526987.1  band 4.1-like protein 1 isoform X17

      See identical proteins and their annotated locations for XP_011526987.1

      UniProtKB/TrEMBL
      B3KUB6
      Conserved Domains (5) summary
      smart00295
      Location:99 → 288
      B41; Band 4.1 homologues
      cd13184
      Location:283 → 376
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:494 → 524
      SAB; SAB domain
      pfam05902
      Location:654 → 731
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:385 → 426
      FA; FERM adjacent (FA)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37812399..37953498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323152.1 → XP_054179127.1  band 4.1-like protein 1 isoform X10

    2. XM_054323155.1 → XP_054179130.1  band 4.1-like protein 1 isoform X11

    3. XM_054323167.1 → XP_054179142.1  band 4.1-like protein 1 isoform X18

    4. XM_054323161.1 → XP_054179136.1  band 4.1-like protein 1 isoform X15

    5. XM_054323164.1 → XP_054179139.1  band 4.1-like protein 1 isoform X16

    6. XM_054323143.1 → XP_054179118.1  band 4.1-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DH22

    7. XM_054323156.1 → XP_054179131.1  band 4.1-like protein 1 isoform X12

    8. XM_054323153.1 → XP_054179128.1  band 4.1-like protein 1 isoform X10

    9. XM_054323154.1 → XP_054179129.1  band 4.1-like protein 1 isoform X11

    10. XM_054323166.1 → XP_054179141.1  band 4.1-like protein 1 isoform X18

    11. XM_054323170.1 → XP_054179145.1  band 4.1-like protein 1 isoform X21

    12. XM_054323171.1 → XP_054179146.1  band 4.1-like protein 1 isoform X22

    13. XM_054323190.1 → XP_054179165.1  band 4.1-like protein 1 isoform X39

    14. XM_054323165.1 → XP_054179140.1  band 4.1-like protein 1 isoform X17

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4G0.2 GenPept UniProtKB/Swiss-Prot:Q9H4G0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous